About Rett Syndrome
Rett syndrome is a neurological disorder occurring primarily in girls, in which individuals exhibit reduced muscle tone, autistic-like behavior, stereotyped hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities and seizures. Hypotonia (loss of muscle tone) is usually the first symptom. The syndrome was first recognized in 1966 by Dr. Andreas Rett, however it was not until a paper was published by Dr. Bengt Hagberg in 1983 that the disorder was made widely known in medical circles. The syndrome affects approximately 1 in every 10,000-15,000 live female births, with symptoms usually appearing in early childhood.
Diagnostic Criteria: (Required for the recognition of Rett Syndrome)
Supportive Criteria: (Symptoms not required for the diagnosis of Rett Syndrome, but which may also be seen)
Source: The International Rett Syndrome Association. See their website for an up-to-date description of the syndrome.
The gene for Rett Syndrome, MeCP-2, was discovered in 1999. Visit the International Rett Syndrome Foundation for more information.
The following sites contain excellent Rett Syndrome information:
Be sure to visit the Belgian Rett Syndrome Association's comprehensive bibliography on Rett Syndrome literature.
I am the mother of a beautiful daughter named Claire who may have a mild variant form of Rett Syndrome, and of an equally beautiful daughter named Jill who does not. I spent five years organizing and maintaining an Indiana family support group, served for three years as a Regional Representative for the International Rett Syndrome Association (now the International Rett Syndrome Foundation), and have maintained this site since 1995. I also keep busy working full time as the director of a software company. I hope you find this site useful.
Debbie Schilling, Indiana, USA
Special Note: If this site has been helpful to you, please consider making a donation to Special Olympics Hamilton County in Claire's honor. Special Olympics is a wonderful program and our local chapter is run by Claire's current teacher, her family, and a dedicated group of volunteers. Your support is truly appreciated.
Dedicated to the memory of my mother, Irene Normark Schilling, the first volunteer for people with disabilities I ever knew. I miss you, Mom.
Copyright © Deborah Schilling